Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My NCBI Filters

Text availability

Article attribute

Article type

Publication date

Search Results

150 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Results By Year timeline is not available.
Page 1
Pleiotropic effects of CEP290 (NPHP6) mutations extend to Meckel syndrome.
Baala L, Audollent S, Martinovic J, Ozilou C, Babron MC, Sivanandamoorthy S, Saunier S, Salomon R, Gonzales M, Rattenberry E, Esculpavit C, Toutain A, Moraine C, Parent P, Marcorelles P, Dauge MC, Roume J, Le Merrer M, Meiner V, Meir K, Menez F, Beaufrère AM, Francannet C, Tantau J, Sinico M, Dumez Y, MacDonald F, Munnich A, Lyonnet S, Gubler MC, Génin E, Johnson CA, Vekemans M, Encha-Razavi F, Attié-Bitach T. Baala L, et al. Among authors: francannet c. Am J Hum Genet. 2007 Jul;81(1):170-9. doi: 10.1086/519494. Epub 2007 Jun 4. Am J Hum Genet. 2007. PMID: 17564974 Free PMC article.
[Lethal syndromes with thin bones].
Maroteaux P, Cohen-Solal L, Bonaventure J, Peter MO, Francannet C, Guibaud P, Moraine C. Maroteaux P, et al. Among authors: francannet c. Arch Fr Pediatr. 1988 Aug-Sep;45(7):477-81. Arch Fr Pediatr. 1988. PMID: 3060039 Review. French.
Facial anomalies in D-2-hydroxyglutaric aciduria.
Amiel J, de Lonlay P, Francannet C, Picard A, Bruel H, Rabier D, Le Merrer M, Verhoeven N, Jakobs C, Lyonnet S, Munnich A. Amiel J, et al. Among authors: francannet c. Am J Med Genet. 1999 Sep 10;86(2):124-9. Am J Med Genet. 1999. PMID: 10449646 Review.
TP63 gene mutation in ADULT syndrome.
Amiel J, Bougeard G, Francannet C, Raclin V, Munnich A, Lyonnet S, Frebourg T. Amiel J, et al. Among authors: francannet c. Eur J Hum Genet. 2001 Aug;9(8):642-5. doi: 10.1038/sj.ejhg.5200676. Eur J Hum Genet. 2001. PMID: 11528512
Unravelling the genetic basis of variable clinical expression in neurofibromatosis 1.
Sabbagh A, Pasmant E, Laurendeau I, Parfait B, Barbarot S, Guillot B, Combemale P, Ferkal S, Vidaud M, Aubourg P, Vidaud D, Wolkenstein P; members of the NF France Network. Sabbagh A, et al. Hum Mol Genet. 2009 Aug 1;18(15):2768-78. doi: 10.1093/hmg/ddp212. Epub 2009 May 5. Hum Mol Genet. 2009. PMID: 19417008 Free PMC article.
150 results